GEN1 Chromosome 2
GEN1 structure-specific endonuclease
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What This Gene Does
This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Rad2/XPG endonuclease family
Locus Type
gene with protein product
Location
2p24.2
Ensembl
ENSG00000178295
Associated Conditions (2)
Olaparib response
GEN1-related disorder
Key Variants
RS1014247385
drug response
Olaparib response, Olaparib response
Drug Response
RS143372639
Conflicting classifications of pathogenicity
Health Risk
RS148028719
Conflicting classifications of pathogenicity
Health Risk
RS201084834
Conflicting classifications of pathogenicity
Health Risk
RS2545627174
Conflicting classifications of pathogenicity
Health Risk
RS369584932
Conflicting classifications of pathogenicity
Health Risk
RS372381849
Conflicting classifications of pathogenicity
GEN1-related disorder, GEN1-related disorder
Health Risk
RS374176559
Conflicting classifications of pathogenicity
Health Risk
RS375511356
Conflicting classifications of pathogenicity
Health Risk
RS376402032
Conflicting classifications of pathogenicity
Health Risk
RS759922532
Conflicting classifications of pathogenicity
Health Risk
RS762962608
Conflicting classifications of pathogenicity
GEN1-related disorder, GEN1-related disorder
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1014247385 | Drug Response | drug response | Olaparib response, Olaparib response |
| RS143372639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148028719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201084834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2545627174 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369584932 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372381849 | Health Risk | Conflicting classifications of pathogenicity | GEN1-related disorder, GEN1-related disorder |
| RS374176559 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375511356 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376402032 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759922532 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762962608 | Health Risk | Conflicting classifications of pathogenicity | GEN1-related disorder, GEN1-related disorder |
| RS763819025 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773253388 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774454074 | Health Risk | Conflicting classifications of pathogenicity | — |